• Title/Summary/Keyword: Genetic translocation

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Cadmium Tolerance in Alfalfa is Related to the Up-regulation of Iron and Sulfur Transporter Genes along with Phytochelatin Accumulation

  • Lee, Ki-Won;Lee, Sang-Hoon;Song, Yowook;Ji, Hee Jung;Choi, Bo Ram;Lim, Eun A;Rahman, Md Atikur
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.40 no.3
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    • pp.190-195
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    • 2020
  • Cadmium (Cd) toxicity is a serious limitation for agricultural production. In this study, we explored tolerance mechanism associated with Cd toxicity tolerance in alfalfa plants. We used three distinct alfalfa cultivars M. sativa cv. Vernal, M. sativa cv. Zhung Mu, and M. sativa cv. Xing Jiang Daye in this study. Cd showed declined chlorophyll score in Xing Jiang Daye compared with Zhung Mu and Vernal. No significant change observed among the cultivars for root and shoot length. Atomic absorption spectroscopy analysis demonstrated a significant accumulation of Cd, Fe, S and PC in distinct alfalfa cultivars. However, Zhung Mu and Xing Jiang Daye declined Cd accumulation in root, where Fe, S and PC incremented only in Zhung Mu. It suggests that excess Cd in Zhung Mu possibly inhibited in root by the increased accumulation of Fe, S and PC. This was further confirmed by the response of Fe (MsIRT1) and S transporters (MsSULTR1;2 and MsSULTR1;3), and MsPCS1 genes associated with Fe, S and PC availability and translocation in roots and shoots. It suggests that specially the transcript signal inducing the responses to adjust Cd especially in Zhung Mu. This finding provides the essential background for further molecular breeding program for forage crops.

Multiplex RT-PCR Assay for Detection of Common Fusion Transcripts in Acute Lymphoblastic Leukemia and Chronic Myeloid Leukemia Cases

  • Limsuwanachot, Nittaya;Siriboonpiputtana, Teerapong;Karntisawiwat, Kanlaya;Chareonsirisuthigul, Takol;Chuncharunee, Suporn;Rerkamnuaychoke, Budsaba
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.2
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    • pp.677-684
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    • 2016
  • Background: Acute lymphoblastic leukemia (ALL) is a heterogeneous disease which requires a risk-stratified approach for appropriate treatment. Specific chromosomal translocations within leukemic blasts are important prognostic factors that allow identification of relevant subgroups. In this study, we developed a multiplex RT-PCR assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2A-PBX1). Materials and Methods: A total of 214 diagnosed ALL samples from both adult and pediatric ALL and 14 cases of CML patients (154 bone marrow and 74 peripheral blood samples) were assessed for specific chromosomal translocations by cytogenetic and multiplex RT-PCR assays. Results: The results showed that 46 cases of ALL and CML (20.2%) contained the fusion transcripts. Within the positive ALL patients, the most prevalent cryptic translocation observed was mBCR-ABL (p190) at 8.41%. In addition, other genetic rearrangements detected by the multiplex PCR were 4.21% TEL-AML1 and 2.34% E2A-PBX1, whereas MLL-AF4 exhibited negative results in all tested samples. Moreover, MBCR-ABL was detected in all 14 CML samples. In 16 samples of normal karyotype ALL (n=9), ALL with no cytogentic result (n=4) and CML with no Philadelphia chromosome (n=3), fusion transcripts were detected. Conclusions: Multiplex RT-PCR provides a rapid, simple and highly sensitive method to detect fusion transcripts for prognostic and risk stratification of ALL and CML patients.

PATHWAYS AND GENES OF DNA DOUBLE-STRAND BREAK REPAIR ASSOCIATED WITH HEAD AND NECK CANCER (DNA 이중나선파손의 수복 과정과 이와 연관된 두경부암 발생 유전자)

  • Oh, Jung-Hwan;Lee, Deok-Won;Ryu, Dong-Mok
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.35 no.1
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    • pp.1-6
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    • 2009
  • DNA double-strand breaks (DSBs) occur commonly in the all living and in cycling cells. They constitute one of the most severe form of DNA damage, because they affect both strand of DNA. DSBs result in cell death or a genetic alterations including deletion, loss of heterozygosity, translocation, and chromosome loss. DSBs arise from endogenous sources like metabolic products and reactive oxygen, and also exogenous factors like ionizing radiation. Defective DNA DSBs can lead to toxicity and large scale sequence rearrangement that can cause cancer and promote premature aging. There are two major pathways for their repair: homologous recombination(HR) and non-homologous end-joining(NHEJ). The HR pathway is a known "error-free" repair mechanism, in which a homologous sister chromatid serves as a template. NHEJ, on the other hand, is a "error-prone" pathway, in which the two termini of the broken DNA molecule are used to form compatible ends that are directly ligated. This review aims to provide a fundamental understanding of how HR and NHEJ pathways operate, cause genome instability, and what kind of genes during the pathways are associated with head and neck cancer.

Cytochalasin B Modulates Macrophage-Mediated Inflammatory Responses

  • Kim, Mi-Yeon;Kim, Jong-Hoon;Cho, Jae Youl
    • Biomolecules & Therapeutics
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    • v.22 no.4
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    • pp.295-300
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    • 2014
  • The actin cytoskeleton plays an important role in macrophage-mediated inflammatory responses by modulating the activation of Src and subsequently inducing nuclear factor (NF)-${\kappa}B$ translocation. In spite of its critical functions, few papers have examined how the actin cytoskeleton can be regulated by the activation of toll-like receptor (TLR). Therefore, in this study, we further characterized the biological value of the actin cytoskeleton in the functional activation of macrophages using an actin cytoskeleton disruptor, cytochalasin B (Cyto B), and explored the actin cytoskeleton's involvement in morphological changes, cellular attachment, and signaling events. Cyto B strongly suppressed the TLR4-mediated mRNA expression of inflammatory genes such as cyclooxygenase (COX)-2, tumor necrosis factor (TNF)-${\alpha}$, and inducible nitric oxide (iNOS), without altering cell viability. This compound also strongly suppressed the morphological changes induced by lipopolysaccharide (LPS), a TLR4 ligand. Cyto B also remarkably suppressed NO production under non-adherent conditions but not in an adherent environment. Cyto B did not block the co-localization between surface glycoprotein myeloid differentiation protein-2 (MD2), a LPS signaling glycoprotein, and the actin cytoskeleton under LPS conditions. Interestingly, Cyto B and PP2, a Src inhibitor, enhanced the phagocytic uptake of fluorescein isothiocyanate (FITC)-dextran. Finally, it was found that Cyto B blocked the phosphorylation of vasodilator-stimulated phosphoprotein (VASP) at 1 min and the phosphorylation of heat shock protein 27 (HSP27) at 5 min. Therefore, our data suggest that the actin cytoskeleton may be one of the key components involved in the control of TLR4-mediated inflammatory responses in macrophages.

Phytoremediation of Heavy Metal Contaminated Soils Using Transgenic Plants (중금속 오염토양의 식물정화 기술과 형질전환 식물의 이용에 관한 최근 연구동향)

  • Ok, Yong-Sik;Kim, Jeong-Gyu;Yang, Jae E.;Kim, Hee-Joung;Yoo, Kyung-Yoal;Park, Chang-Jin;Jeong, Deok-Yeong
    • Korean Journal of Soil Science and Fertilizer
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    • v.37 no.6
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    • pp.396-406
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    • 2004
  • Current physical and chemical methodologies, conventionally used to clean up metal contaminated soils, are generally too expensive to apply in large hazardous waste sites including agricultural lands adjacent to closed or abandoned metal mines. Phytoremediation using plants to extract, sequester and detoxify environmental pollutants is one of the cost-effective and aesthetically-pleasing alternatives, compared with environmentally destructive remedial methods currently being practiced. But, phytoremediation has some limitations such as time consuming and low performance: in general, it is seasonally dependent and slower in removing metals than other methods, and metal accumulating plants are slow growers. Improvement of plants for metal tolerance, accumulation, and translocation using genetic engineering techniques recently opened up new possibilities for phytoremediation. In this paper, we have discussed about recent developments in conventional and genetically engineered phytoremediation. For the conventional phytoremediation, focuses are on the natural hyperaccumulator and the chemically assisted phytoremediation. Some pros and cons on the phytoremediation using transgenic plants, coupled with focusing on the mechanistic view points, are also discussed. It might be concluded that the transgenic plants will be effective tools in the practical application of phytoremediation especially for the highly contaminated soils but mechanisms involved should be deeply understood in advance.

Genetic Analysis and Serological Detection of Novel O-Antigen Gene Clusters of Plesiomonas shigelloides

  • Wang, Xiaochen;Xi, Daoyi;Li, Yuehua;Yan, Junxiang;Zhang, Jingyun;Guo, Xi;Cao, Boyang
    • Journal of Microbiology and Biotechnology
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    • v.31 no.4
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    • pp.520-528
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    • 2021
  • Plesiomonas shigelloides, a member of the family Vibrionaceae, is a gram-negative, rod-shaped, facultative anaerobic bacterium with flagella. P. shigelloides has been isolated from such sources as freshwater, surface water, and many wild and domestic animals. P. shigelloides contains 102 O-antigens and 51 H-antigens. The diversity of O-antigen gene clusters is relatively poorly understood. In addition to O1 and O17 reported by other laboratories, and the 12 O serogroups (O2, O10, O12, O23, O25, O26, O32, O33, O34, O66, O75, and O76) reported previously by us, in the present study, nine new P. shigelloides serogroups (O8, O17, O18, O37, O38, O39, O44, O45, and O61) were sequenced and annotated. The genes for the O-antigens of these nine groups are clustered together in the chromosome between rep and aqpZ. Only O38 possesses the wzm and wzt genes for the synthesis and translocation of O-antigens via the ATP-binding cassette (ABC) transporter pathway; the other eight use the Wzx/Wzy pathway. Phylogenetic analysis using wzx and wzy showed that both genes are diversified. Among the nine new P. shigelloides serogroups, eight use wzx/wzy genes as targets. In addition, we developed an O-antigen-specific PCR assay to detect these nine distinct serogroups with no cross reactions among them.

Effect of Synthetic CaM and NFAT Oligodeoxynucleotide on MPP+-Stimulated Mesencephalic Neurons

  • Jihyun Park;Kyung Mi Jang
    • Journal of Interdisciplinary Genomics
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    • v.5 no.2
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    • pp.35-41
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    • 2023
  • Background: Ca2+ signaling plays a vital role in neuronal signaling and altered Ca2+ homeostasis in Parkinson's disease (PD). Overexpression of αSYN significantly promote the Ca2+-Calmodulin (CaM) activity and subsequent nuclear translocation of nuclear factor of activated T cells (NFAT) transcription factor in dopaminergic neurons of midbrain. However, the exact role of Ca2+-CaM and NFAT in PD pathology is yet to be elucidated. Methods: We designed the CaM-NFAT-oligodeoxynucleotide (ODN), a synthetic short DNA containing complementary sequence for NFAT transcription factor and CaM mRNA. Then, the effect of CaM-NFAT-ODN on 1-methyl-4-phenylpyridinium (MPP+)-mediated neurotoxicity was investigated in mimic PD model in vitro. Results: First, the expression of αSYN and CaM was strongly increased in substantia nigra (SN) of PD and the expression of tyrosine hydroxylase (TH) was strongly increased in control SN. Additionally, the expression of apoptosis marker proteins was strongly increased in SN of PD. Transfection of CaM-NFAT-ODN repressed CaM and pNFAT, the target genes of this ODN in rat embryo primary mesencephalic neurons. It also reduced ERK phosphorylation, a downstream target of these genes. These results demonstrated that CaM-NFAT-ODN operated successfully in rat embryo primary mesencephalic neurons. Transfection of CaM-NFAT-ODN repressed TH reduction, αSYN accumulation, and apoptosis by MPP+-induced neurotoxicity response through Ca2+ signaling and mitogen-activated protein kinases (MAPK) signaling. Conclusion: Synthetic CaM-NFAT-ODN has substantial therapeutic feasibility for the treatment of neurodegenerative diseases.

The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome (한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석)

  • Park, Sang-Jin;Kim, Sook-Ryung;Baek, Kum-Nyeo;Yoon, Joon-No;Jeong, Eun-Jeong;Kown, Ji-Eun;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.133-141
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    • 2007
  • Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

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Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years (말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험)

  • Seo, Hye-Eun;Lee, Ji Hye;Kim, Ji Yoon;Lee, Dong Ha;Lee, Heung Kyo;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.9
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    • pp.875-881
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    • 2007
  • Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

Effect of dietary supplementation with Spirulina on the expressions of AANAT, ADRB3, BTG2 and FASN genes in the subcutaneous adipose and Longissimus dorsi muscle tissues of purebred and crossbred Australian sheep

  • Kashani, Arash;Holman, Benjamin William Behrens;Nichols, Peter David;Malau-Aduli, Aduli Enoch Othniel
    • Journal of Animal Science and Technology
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    • v.57 no.3
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    • pp.8.1-8.8
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    • 2015
  • Background: The demand for healthy, lean and consistent meat products containing low saturated fatty acid content and high quality polyunsaturated fatty acids (PUFA), especially long-chain (${\geq}C_{20}$) omega-3 PUFA, has increased in recent times. Fat deposition is altered by both the genetic background and dietary supplements, and this study aimed to assess the effect of dietary Spirulina supplementation levels on the mRNA expression patterns of genes controlling lipid metabolism in the subcutaneous adipose tissue (SAT) and Longissimus dorsi (ld) muscle of Australian crossbred sheep. Methods: Twenty-four weaned lambs belonging to four breeds under the same management conditions were maintained on ryegrass pasture and fed three levels of Spirulina supplement (control, low and high). In terms of nutrient composition, Spirulina is a nutrient-rich supplement that contains all essential amino acids, vitamins and minerals. It also is a rich source of carotenoids and fatty acids, especially gamma-linolenic acid (GLA) that infer health benefits. After slaughter, subcutaneous adipose tissue (SAT) and ld samples were subjected to mRNA extraction and reverse transcription using quantitative polymerase chain reaction (RT-qPCR) to assess the mRNA expression levels of the Aralkylamine N-acetyltransferase (AANAT), Adrenergic beta-3 receptor (ADRB3), B-cell translocation gene 2 (BTG2) and Fatty acid synthase (FASN) genes, which are associated with lipid metabolism. Results: Both low and high Spirulina supplementation levels strongly up-regulated the transcription of all the selected genes in both SAT and ld tissues (mostly in the subcutaneous adipose), but sheep breed and sex did not influence the gene expression patterns in these tissues. Conclusions: The evidence indicates that high Spirulina supplementation level resulted in a decrease in intramuscular fat content in Australian purebred and crossbred sheep due to the enhanced production of melatonin in sheep muscle tissues and strong up-regulation of mRNA expression of BTG2 in SAT which negatively affected fat deposition. In contrast, low Spirulina supplementation level strongly up-regulated the ADRB3 and FASN genes responsible for fat production. These findings are consistent with the observed phenotypic data suggesting that low Spirulina supplementation level can increase lamb production, with higher long-chain PUFA content.